Summaries for Schinzel Giedion Syndrome

NIH Rare Diseases:48 Schinzel giedion syndrome (sgs) is a rare, severe condition that is present from birth and affects many parts of the body. features of sgs include severe intellectual disability; a distinctive facial appearance; excessive hair growth (hypertrichosis); and various birth defects that may affect the skeletal system, genitourinary system; kidneys; and heart. affected children usually do not survive beyond a few years after birth. sgs is caused by a mutation in the setbp1 gene. the mutation is not inherited from a parent, but occurs for the first time in the affected child (a de novo mutation). treatment is based on symptoms and consists of palliative care.
last updated: 5/23/2016

Genetics Home Reference:25 Schinzel-Giedion syndrome is a severe condition that is apparent at birth and affects many body systems. Signs and symptoms of this condition include distinctive facial features, neurological problems, and organ and bone abnormalities. Because of their serious health problems, most affected individuals do not survive past childhood.